Prenatal diagnosis

The National Bioethics Committee puts the title of this opinion in the plural due to the number and variety of diagnoses that are available during prenatal life, with a large variety of interventions and techniques that may be used with the pregnant woman’s informed consent. The first part of the document therefore is dedicated to the analysis of these techniques, divided into invasive and non-invasive, with particular attention to the pre-implantation diagnosis techniques and the genetic consultancy which should accompany the women who decide to use this type of diagnostic examination.The second part of the document instead concerns the ethical implications of prenatal diagnosis and stresses the important influence that this has over the feelings, attitudes and behaviour towards pregnancy, not only of the mother but also the family and healthcare staff. There are then the medical-legal aspects, connected to the evaluation of the risk-benefit relation, above all with regard to the invasive techniques of prenatal and pre-implantation diagnosis.On the whole, the judgment on prenatal diagnosis is positive, since therapeutic possibilities can be associated with diagnostic ones, leading the unborn child to being a real patient. However, over the last decades there has been an increase in the success of pregnancy, therefore the tolerance about the uncertainty of its outcome has decreased. The opinion stresses that prenatal diagnosis is really prevention when it facilitates the immediate correction of any anomaly that is discovered, while it is not if aimed exclusively at evaluating whether to abort or not.Due to the significant ethical implications that prenatal diagnosis involves, such diagnostic treatment should be accompanied by appropriate genetic consultancy, which would give information on the nature of the test, but also on the implications of its possible results and would support the woman and family psychologically. The most important aspects on which the genetic consultancy should concentrate concern the reliability of the technique, the biological risk for the mother and the foetus, the objectives of the test and the advantages and disadvantages arising from it. The ethical and psychological implications require that prenatal diagnosis, even if non-invasive and low risk, cannot disregard the pregnant woman’s informed consent.The ethical evaluation of pre-implantation diagnosis is also problematic, as it is conditioned by different conceptions of the statute of the not yet implanted human embryo, which according to some is a person in the full sense while for others it is not. This latter position leads one to consider the selection of the embryos to implant into the womb licit and therefore the destruction of the embryos that risk developing serious malformations.In the appendix the opinion includes some tables showing the distribution of Cytogenic Laboratories in Italy and the therapeutic possibilities offered by the use of prenatal diagnosis. The document ends with the bibliography and glossary.